Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy
BC Knollmann, JD Potter - Trends in cardiovascular medicine, 2001 - Elsevier
Mutations in cardiac Troponin T (TnT) are responsible for approximately 15% of all cases of
familial hypertrophic cardiomyopathy (FHC). This review summarizes recent data from in
vitro assays, transgenic models and clinical studies on how TnT mutations alter the
regulation of cardiac muscle contraction. Each TnT mutation has somewhat different effects
on myofilament properties (increased myofilament Ca2+ sensitivity, decreased maximal
force, decreased binding affinity to the thin filament, impaired pH-regulation). But when the …
familial hypertrophic cardiomyopathy (FHC). This review summarizes recent data from in
vitro assays, transgenic models and clinical studies on how TnT mutations alter the
regulation of cardiac muscle contraction. Each TnT mutation has somewhat different effects
on myofilament properties (increased myofilament Ca2+ sensitivity, decreased maximal
force, decreased binding affinity to the thin filament, impaired pH-regulation). But when the …